Canonical Allele Identifier: CA2578018283
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1803873_1803874del , CM000666.2:g.1803873_1803874del GRCh38
NC_000004.11:g.1805600_1805601del , CM000666.1:g.1805600_1805601del GRCh37
NC_000004.10:g.1775398_1775399del NCBI36
NG_012632.1:g.15562_15563del , LRG_1021:g.15562_15563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-457_1082-456del ENSP00000339824.4:n.1082-457_1082-456del
ENST00000260795.8:c.*131+37_*131+38del ENSP00000260795.3:n.*131+37_*131+38del
ENST00000352904.6:c.931-951_931-950del ENSP00000231803.1:n.931-951_931-950del
ENST00000412135.7:c.1063+37_1063+38del ENSP00000412903.3:n.1063+37_1063+38del
ENST00000440486.8:c.1075+37_1075+38del MANE Select ENSP00000414914.2:n.1075+37_1075+38del
ENST00000481110.7:c.1075+37_1075+38del ENSP00000420533.2:n.1075+37_1075+38del
ENST00000643463.1:n.227-457_227-456del
ENST00000260795.6:c.1075+37_1075+38del ENSP00000260795.2:n.1075+37_1075+38del
ENST00000340107.8:c.1082-457_1082-456del ENSP00000339824.4:n.1082-457_1082-456del
ENST00000352904.5:c.931-951_931-950del ENSP00000231803.1:n.931-951_931-950del
ENST00000412135.6:c.931-951_931-950del ENSP00000412903.2:n.931-951_931-950del
ENST00000440486.6:c.1075+37_1075+38del ENSP00000414914.2:n.1075+37_1075+38del
ENST00000481110.6:c.1075+37_1075+38del ENSP00000420533.2:n.1075+37_1075+38del
ENST00000613647.4:c.*131+37_*131+38del ENSP00000479472.1:n.*131+37_*131+38del
NM_000142.4:c.1075+37_1075+38del , LRG_1021t1:c.1075+37_1075+38del NP_000133.1:n.1075+37_1075+38del
NM_001163213.1:c.1082-457_1082-456del , LRG_1021t2:c.1082-457_1082-456del NP_001156685.1:n.1082-457_1082-456del
NM_022965.3:c.931-951_931-950del NP_075254.1:n.931-951_931-950del
XM_006713868.1:c.1082-457_1082-456del XP_006713931.1:n.1082-457_1082-456del
XM_006713869.1:c.1082-457_1082-456del XP_006713932.1:n.1082-457_1082-456del
XM_006713870.1:c.1082-457_1082-456del XP_006713933.1:n.1082-457_1082-456del
XM_006713871.1:c.1082-457_1082-456del XP_006713934.1:n.1082-457_1082-456del
XM_006713872.1:c.1075+37_1075+38del XP_006713935.1:n.1075+37_1075+38del
XM_006713873.1:c.1075+37_1075+38del XP_006713936.1:n.1075+37_1075+38del
XM_011513420.1:c.1075+37_1075+38del XP_011511722.1:n.1075+37_1075+38del
XM_011513422.1:c.1075+37_1075+38del XP_011511724.1:n.1075+37_1075+38del
NM_001354809.1:c.1075+37_1075+38del NP_001341738.1:n.1075+37_1075+38del
NM_001354810.1:c.1075+37_1075+38del NP_001341739.1:n.1075+37_1075+38del
NR_148971.1:n.1482+37_1482+38del
NM_001354809.2:c.1075+37_1075+38del NP_001341738.1:n.1075+37_1075+38del
NM_001354810.2:c.1075+37_1075+38del NP_001341739.1:n.1075+37_1075+38del
NR_148971.2:n.1501+37_1501+38del
NM_000142.5:c.1075+37_1075+38del MANE Select NP_000133.1:n.1075+37_1075+38del
NM_001163213.2:c.1082-457_1082-456del NP_001156685.1:n.1082-457_1082-456del
NM_022965.4:c.931-951_931-950del NP_075254.1:n.931-951_931-950del